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Details for OTUD4:c.386C>G, p.Ala129Gly

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
146080703	145159551

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.386C>G

PROTEIN CHANGE

p.Ala129Gly

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001358	0.0001847	0.0005496	0.0006946	5.44e-05	0.000416	0.00184	0.0009794	0.002844

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.898486	Polymorphism

DBSNP ID

1 combination linked to OTUD4:c.386C>G, p.Ala129Gly

1 disease linked to OTUD4:c.386C>G, p.Ala129Gly

Hypogonadotropic hypogonadism with absent puberty phenotype

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